BRAF V600E Mutation Detection in Circulating Cell-Free DNA by Digital Droplet PCR
Also known as: BRAF CFDNA
Use
Determining BRAF mutation status is useful in identifying patient eligibility for therapy with kinase inhibitors. The oncogenic BRAF c.1799T>A, p.Val600Glu (V600E) mutation is associated with a clinical response to the BRAF inhibitors dabrafenib and vemurafenib and the MEK inhibitors trametinib and cobimetinib in some tumor types. Monitoring BRAF V600E mutation assists in selecting candidates for targeted therapy and assessing response to therapy and disease progression.
Special Instructions
Specimens must be collected using the Cell-Free DNA Blood Collection Tube available via eSupply using ARUP Connect(TM) or contact ARUP Client Services. Transport should be in cfDNA BCT tubes. Specimen kit can be ordered from ARUP Supply #52358.
Limitations
Other variants at the BRAF V600 codon (V600K, V600R) will not be detected. Mutations in other locations within the BRAF gene or in other genes will not be detected. Limit of detection is dependent on the amplifiable cell-free DNA extracted from plasma, ranging from 0.5 percent to below 0.01 percent mutant allele frequency. Results must be interpreted within the clinical context and other relevant data should not be used alone for the diagnosis of malignancy.
New York Approved
Methodology
PCR-based (Digital Droplet PCR)
Biomarkers
LOINC Codes
- 58415-1
Result Turnaround Time
9-12 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
20 mL
Minimum Volume
1 tube with 10 mL
Container
cfDNA BCT tubes
Collection Instructions
Collect blood in two 10mL cell-free DNA BCT tubes.
Storage Instructions
Transport refrigerated.
Causes for Rejection
FFPE tissue; blood collected in non-cfDNA BCT tubes.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 5 days |
| Refrigerated | 5 days |
| Frozen | Unacceptable |